R5S (p.Arg5Ser) variant of COL6A1 (Collagen alpha-1(VI) chain)
R5S (p.Arg5Ser) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R5S (p.Arg5Ser) variant details
- p.Arg5Ser
- gnomAD 21-45981863-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.14
- MetaLR 0.37
- MetaSVM -0.71
- CADD 3.94
- PolyPhen-2 0.00
- SIFT 0.59
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available